Each patient in the study was evaluated by a senior pediatric rheumatologist with expertise in the diagnosis and treatment of sJIA. The investigators used a stratified study design to query a combination of directly observed and imputed single-nucleotide polymorphisms (SNP) genotypes. The researchers identified HLA-DRB1*11 as a major risk factor for sJIA. The authors also note in the paper that the unique structure of the HLA-DRB1*11 allele suggests that the disease-relevant effect may be independent of antigen presentation and, instead, may be more consistent with a super-antigen-like reaction.
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Lara C. Pullen, PhD, is a medical writer based in the Chicago area.
- Ombrello MJ, Remmers EF, Tachmazidou I, et al. HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis. Proc Natl Acad Sci USA. 2015 Dec 29;112(52):15970–15975. doi: 10.1073/pnas.1520779112. Epub 2015 Nov 23.